P423L (p.Pro423Leu) variant of UBE3A (Ubiquitin-protein ligase E3A)

P423L (p.Pro423Leu) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

P423L (p.Pro423Leu) variant details